Ježová M, Gaillyová R, et al.
Ceskoslovenska patologie. 2017.
Hemophagocytic lymphohistiocytosis is a rare immunologic disorder affecting small children. It is characterized by an excessive and injurious immune response which turns rapidly fatal unless promptly and effectively treated. The main clinical signs are prolonged fever, hepatosplenomegaly, bleeding and laboratory findings of pancytopenia, increased serum transaminases, hypertriglyceridemia and hypofibrinogenemia. Four genes responsible for familiar hemophagocytic lymphohistiocytosis, which is inherited in autosomal recessive manner, have been identified so far. This case report describes a fatal case of familiar hemophagocytic lymphohistiocytosis caused by compound heterozygote mutation for perforin. A previously healthy neonate, first child of noncosanguineous young healthy parents, presented with hypothermia and fulminant hepatic failure at 28 days of life and succumbed short after. The diagnosis was made at autopsy and confirmed by genetic testing postmortem. Five months later prenatal testing confirmed carrier status in the sibling to be born. This is to our knowledge only the second case of familiar hemophagocytic lymphohistiocytosis caused by perforin deficit in a Czech patient.